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FLASH GENE
Symbol ERCC8 contributors: mct - updated : 01-09-2015
HGNC name excision repair cross-complementing rodent repair deficiency, complementation group 8
HGNC id 3439
DNA
TYPE functioning gene
STRUCTURE 71.25 kb     12 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 2044 43 396 - Bethke(2008)
13 - 2252 37 338 - -
having an additional exon in the 5' region and using a downstream AUG start codon, as compared to variant 1
6 - 908 23 205 - -
  • lacking several 3' exons and having an alternate 3' end, as compared to variant 1
  • the encoded isoform 3 has a shorter and distinct C-terminus, as compared to isoform 1
    • 11 - 1964 - 243 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Hearing/Equilibriumear    
    Lymphoid/Immunethymus   highly
    Nervousbraindiencephalonepithalamuspineal gland 
    Respiratorylung    
     respiratory tractlarynx   
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven WD40 repeat motifs and beta-propeller architecture
    • HOMOLOGY
    interspecies homolog to murine Ercc8
    Homologene
    FAMILY
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    text rapidly translocated to the nuclear matrix after UV irradiation
    basic FUNCTION
  • involved in RNA polymerase II transcription and in transcription-coupled repair
  • ERCC6, ERCC8 are the key elements of a regulatory mechanism that equilibrate beneficial and detrimental effects of TP53 activity upon cellular stress
  • ERCC6, ERCC8, in addition to their established role in transcription-coupled nucleotide excision repair, can modulate the base excision repair (BER) of oxidized DNA bases both directly (by interaction with BER proteins) and indirectly (by modulating the expression of the DNA repair genes)
  • role of ERCC6 and ERCC8 protein in the oxidative stress response
  • role of ERCC8 in transcription-coupled nucleotide excision repair
  • DNA repair factor of the transcription-coupled branch of nucleotide excision repair
    • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    nucleotide excision repair (NER) pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CSB (ERCC6) protein and a subunit of (p44) TFIIH factor
  • interacting with XAB2
  • UVSSA is an evolutionarily conserved protein that participates in Transcription-coupled repair (TCR)through its interaction with ERCC8 and the TFIIH complex
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CKN1
    Susceptibility to meningioma
    Variant & Polymorphism SNP increasing the risk of meningioma
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS